Rare Disease Report


Results from a study published in the Orphanet Journal of Rare Diseases this week suggest that the hereditary neuropathy with liability to pressure palsies, which has been assumed to be rare, might not be uncommon in the Korean population.
This morning, it was announced that the U.S. FDA has approved CSL Behring’s maintenance therapy for the treatment of patients with chronic inflammatory demyelinating polyneuropathy (CIDP).
The U.S. Food and Drug Administration has granted Fast Track designation to gaboxadol (OV101), a therapy in development for the treatment of Fragile X syndrome.
The U.S. FDA has placed a Clinical Hold on the IGNITE DMD Phase 2/3 trial for SGT-001 microdystrophin gene transfer in Duchenne muscular dystrophy, Solid Biosciences Inc. has announced.
World-renowned Cambridge University physicist and best-selling author Stephen Hawking died at his home in England early this morning. He was 76 years old.
Teva Pharmaceuticals, the HDSA, and the ALS Association are partnering for the Teva CNS Target Identification Challenge, a crowdsourcing effort to seek novel targets with therapeutic potential.
This morning, Alynylam Pharmaceuticals, Inc. has announced the Bridge the Gap initiative in which it will partner with a family affected by hATTR amyloidosis for a new book.

The initiative, called , will allow the family that has lived with the rare disease for generations to share its personal accounts. The book is titled “Living a Rare Life,” and can be found, along with other educational content, at hATTRBridge.com.
Anaya Mitchell was diagnosed with myasthenia gravis (MG) in the Summer of 2013. She was 13 years old. In this video, describes the challenging road she had on her way to diagnosis.
It was recently revealed that a newly-discovered biochemical pathway could assist scientists develop new ways to protect cells against the oxidative stress that is commonly associated with Huntington’s disease.
Top-line results from the pivotal Phase 3 GLOBE study of ofranergene obadenovec in combination with bevacizumab in patients with recurrent glioblastoma were reported today, and the study did not meet its primary endpoint of overall survival.
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